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Publications by Sahar Mansour

Mutations in GATA2 Cause Primary Lymphedema Associated With a Predisposition to Acute Myeloid Leukemia (Emberger Syndrome)

Nature Genetics
Genetics
2011English

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics
Genetics
2019English

Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

American Journal of Human Genetics
Genetics
2014English

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics
Genetics
2019English

Van Maldergem Syndrome: Further Characterisation and Evidence for Neuronal Migration Abnormalities and Autosomal Recessive Inheritance

European Journal of Human Genetics
Genetics
2012English

The Association of Primary Hyperparathyroidism and Primary Ovarian Failure: A De Novo T(X; 2) (Q22p13) Reciprocal Translocation

European Journal of Endocrinology
MedicineEndocrinologyMetabolismDiabetes
2008English

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